ABCA4 G863A [photoreceptor disc membrane]

Stable Identifier
R-HSA-2466821
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Retinal-specific ATP-binding cassette transporter, ABCA4_HUMAN, ABCA4
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCA4, ABCR
Chain
chain:1-2273
Reference Transcript
Other Identifiers
0004070300
11748209_a_at
11752075_a_at
16689764
210082_at
24
2423670
2423671
2423672
2423675
2423676
2423679
2423680
2423681
2423683
2423687
2423690
2423693
2423694
2423696
2423698
2423699
2423703
2423705
2423710
2423711
2423712
2423713
2423714
2423717
2423719
2423720
2423722
2423723
2423724
2423727
2423728
2423730
2423731
2423733
2423737
2423738
2423742
2423743
2423744
2423745
2423747
2423748
2423755
2423761
2423762
2423776
2423777
2423778
2423779
2423781
2423786
2423788
2423792
2423793
2423795
2423802
2423803
40963_at
7917798
A_23_P160940
GE62785
GO:0000166
GO:0001523
GO:0001750
GO:0003674
GO:0005215
GO:0005319
GO:0005524
GO:0005548
GO:0005575
GO:0005622
GO:0005737
GO:0005783
GO:0005886
GO:0005887
GO:0005929
GO:0006629
GO:0006649
GO:0006810
GO:0006869
GO:0007165
GO:0007601
GO:0007603
GO:0008150
GO:0016020
GO:0016021
GO:0016887
GO:0022857
GO:0042592
GO:0042626
GO:0043167
GO:0043226
GO:0043231
GO:0045332
GO:0045494
GO:0050877
GO:0050896
GO:0055085
GO:0061024
GO:0090555
GO:0097381
GO:0140326
GO:0140327
GO:0140347
ILMN_1794965
PH_hs_0025057
TC01002883.hg
U88667_at
g1888526_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
glycine 863 replaced with L-alanine
Coordinate
863
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-alanine.
Disease
Name Identifier Synonyms
macular degeneration 4448 Macular degeneration of retina, unspecified, Macular degeneration (disorder), macular degeneration
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
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